INS, insulin, 3630

N. diseases: 405; N. variants: 37
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515519
rs397515519 		1.000 0.080 11 2159793 synonymous variant T/C snv 4.5E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs3842753
rs3842753 		1.000 0.120 11 2159830 missense variant T/G snv 0.73 0.60
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs80356672
rs80356672 		0.925 0.120 11 2159862 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356672
rs80356672 		0.925 0.120 11 2159862 missense variant T/C snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908277
rs121908277 		1.000 0.080 11 2159877 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs121908276
rs121908276 		1.000 0.080 11 2159883 missense variant G/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2007 2008
dbSNP: rs1564911425
rs1564911425 		0.925 0.080 11 2159895 missense variant G/C snv
CUI: C3150617
Disease: Maturity-onset diabetes of the young, type 10
Maturity-onset diabetes of the young, type 10 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1564911425
rs1564911425 		0.925 0.080 11 2159895 missense variant G/C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 5 2007 2015
dbSNP: rs80356671
rs80356671 		1.000 0.080 11 2159898 missense variant C/G;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs1057524907
rs1057524907 		0.925 0.080 11 2159907 missense variant T/C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1057524907
rs1057524907 		0.925 0.080 11 2159907 missense variant T/C snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 2007 2015
dbSNP: rs121918102
rs121918102 		1.000 0.080 11 2159911 missense variant C/A snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356670
rs80356670 		1.000 0.080 11 2159917 missense variant C/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs28933985
rs28933985 		1.000 0.080 11 2159919 missense variant C/A;G;T snv 4.4E-06
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 1.000 7 1985 2010
dbSNP: rs80356669
rs80356669 		1.000 0.080 11 2159920 missense variant G/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs121908274
rs121908274 		0.925 0.080 11 2159935 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2007 2008
dbSNP: rs121908274
rs121908274 		0.925 0.080 11 2159935 missense variant C/T snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121908279
rs121908279 		0.925 0.080 11 2159983 missense variant G/T snv 2.5E-05 2.1E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908279
rs121908279 		0.925 0.080 11 2159983 missense variant G/T snv 2.5E-05 2.1E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908279
rs121908279 		0.925 0.080 11 2159983 missense variant G/T snv 2.5E-05 2.1E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs797045623
rs797045623 		1.000 0.080 11 2160028 intron variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs3842748
rs3842748 		0.925 0.200 11 2160165 intron variant C/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3842748
rs3842748 		0.925 0.200 11 2160165 intron variant C/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs886041083
rs886041083 		1.000 0.080 11 2160544 intron variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121908261
rs121908261 		0.851 0.120 11 2160809 missense variant G/A snv
CUI: C1852092
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 2
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2008 2008